rs199534074
This variant is located in the POMGNT1 gene.
▶ClinVar annotation
Congenital Muscular Dystrophy, alpha-dystroglycan related; not provided; Limb-girdle muscular dystrophy, recessive; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscle eye brain disease; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; Autosomal recessive limb-girdle muscular dystrophy type 2O; Retinitis pigmentosa 76; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3;Retinitis pigmentosa 76;Autosomal recessive limb-girdle muscular dystrophy type 2O
View on ClinVar →About POMGNT1
This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]
View all POMGNT1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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